DISEASES

Disease-gene associations mined from literature

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Human genes for metaphyseal dysplasia

Metaphyseal dysplasia [DOID:0080019]

An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.

Synonyms:  metaphyseal dysplasia,  DOID:0080019,  metaphyseal dysplasias,  Bakwin-Krida syndrome,  Pyle-Cohn syndrome ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.